Canonical Allele Identifier: CA1386046

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 374768
• ClinVar RCV Id: RCV000415829 ; RCV000986509 ; RCV001075766 ; RCV003324526 ; RCV003418102
• dbSNP Id: rs556788423
• ExAC: 1:213056785 G / A
• gnomAD v2: 1-213056785-G-A
• gnomAD v3: 1-212883443-G-A
• gnomAD v4: 1-212883443-G-A
• MyVariant Identifiers: chr1:g.213056785G>A (hg19) ; chr1:g.212883443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883443G>A , CM000663.2:g.212883443G>A	GRCh38
NC_000001.10:g.213056785G>A , CM000663.1:g.213056785G>A	GRCh37
NC_000001.9:g.211123408G>A	NCBI36
NG_028131.1:g.30189G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366971.9:c.1092+5G>A MANE Select	ENSP00000355938.4:n.1092+5G>A
ENST00000366971.8:c.1092+5G>A	ENSP00000355938.4:n.1092+5G>A
ENST00000419102.1:c.488+5G>A
ENST00000474693.1:n.317+5G>A
ENST00000483790.1:n.30+5G>A
NM_014053.3:c.1092+5G>A	NP_054772.1:n.1092+5G>A
XM_011509446.1:c.1092+5G>A	XP_011507748.1:n.1092+5G>A
XR_247024.1:n.1266+5G>A
XR_426771.1:n.1393+5G>A
XM_011509446.3:c.1092+5G>A	XP_011507748.1:n.1092+5G>A
XR_247024.3:n.1266+5G>A
NM_014053.4:c.1092+5G>A MANE Select	NP_054772.1:n.1092+5G>A